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| Nomenclature |
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Symbol:
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Mecp2tm1Hzo
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Name:
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methyl CpG binding protein 2;
targeted mutation 1, Huda Zoghbi
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MGI ID: |
MGI:2183727 |
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Synonyms: |
Mecp2308 |
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Gene:
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Mecp2
Location:
ChrX:74026592-74085690 bp, - strand
Genetic Position: ChrX,
37.63 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:78009
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A stop codon and a floxed neo cassette were inserted into exon 4. The stop codon was inserted downstream of codon 308, allowing translation of the methyl-CpG binding domain and the transcriptional repression domain. Western blot analysis showed that only truncated protein was present in homozygous mutant mice. Staining of brain tissue with a carboxy terminal antibody confirmed the absence of normal protein. (J:78009)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:78009
Shahbazian M et al.,
"Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3."
Neuron 2002 Jul 18;35(2):243-54
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All: |
16 reference(s)
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Analysis Tools
